TTN c.51634C>T ;(p.L17212F)

Variant ID: 2-179474516-G-A

NM_001267550.1(TTN):c.51634C>T;(p.L17212F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

Plos One
Kostareva, Anna A; Kiselev, Artem A; Gudkova, Alexandra A; Frishman, Goar G; Ruepp, Andreas A; Frishman, Dmitrij D; Smolina, Natalia N; Tarnovskaya, Svetlana S; Nilsson, Daniel D; Zlotina, Anna A; Khodyuchenko, Tatiana T; Vershinina, Tatiana T; Pervunina, Tatiana T; Klyushina, Alexandra A; Kozlenok, Andrey A; Sjoberg, Gunnar G; Golovljova, Irina I; Sejersen, Thomas T; Shlyakhto, Eugeniy E
Publication Date: 2016

Variant appearance in text: TTN: L17212F
PubMed Link: 27662471
Variant Present in the following documents:
  • Main text
  • pone.0163362.pdf
View BVdb publication page